Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 Genomes Project
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 Genomes Project
Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects of cilia structure and function, caused by a range of different inherited mutations found in more than 150 different genes. Genetic analysis has rapidly advanced our understanding of the cell biological basis of ciliopathies over the past two decades, with more recent technological advances in genomics rapidly accelerating this progress. The 100,000 Genomes Project was launched in 2012 in the UK to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS). In this review we discuss the potential promise and medical impact of WGS for ciliopathies and report on current progress of the 100,000 Genomes Project, reviewing the medical, technical and ethical challenges and opportunities that new, large scale initiatives such as this can offer.
Genome Project, ciliopathies, cilia, genomics, genetics
Wheway, Gabrielle
2e547e5d-b921-4243-a071-2208fd4cc090
Mitchison, Hannah M.
3e88e1ba-29d9-4243-8531-d13e66fa1e01
11 March 2019
Wheway, Gabrielle
2e547e5d-b921-4243-a071-2208fd4cc090
Mitchison, Hannah M.
3e88e1ba-29d9-4243-8531-d13e66fa1e01
Wheway, Gabrielle and Mitchison, Hannah M.
(2019)
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 Genomes Project.
Frontiers in Genetics, 10.
(doi:10.3389/fgene.2019.00127).
Abstract
Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects of cilia structure and function, caused by a range of different inherited mutations found in more than 150 different genes. Genetic analysis has rapidly advanced our understanding of the cell biological basis of ciliopathies over the past two decades, with more recent technological advances in genomics rapidly accelerating this progress. The 100,000 Genomes Project was launched in 2012 in the UK to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS). In this review we discuss the potential promise and medical impact of WGS for ciliopathies and report on current progress of the 100,000 Genomes Project, reviewing the medical, technical and ethical challenges and opportunities that new, large scale initiatives such as this can offer.
Text
fgene-10-00127
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Accepted/In Press date: 6 February 2019
Published date: 11 March 2019
Keywords:
Genome Project, ciliopathies, cilia, genomics, genetics
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Local EPrints ID: 428847
URI: http://eprints.soton.ac.uk/id/eprint/428847
ISSN: 1664-8021
PURE UUID: 0729b8f0-d8b4-4ce7-adee-54502eac11bd
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Date deposited: 13 Mar 2019 17:30
Last modified: 16 Mar 2024 04:38
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Author:
Hannah M. Mitchison
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